efficacy and safety evaluation of recombinant human growth hormone (r-hgh), saizen®, on a population of children with hypochondroplasia, treated at least 3 years or until near final height, when applicable, in comparison with a historic cohort of non-treated children

Conditions: Hypochondroplasia

Summary: this study is conducted to describe the efficacy and safety of recombinant human growth hormone (r-hgh) treatment saizen® on children with hypochondroplasia.


Eligibility criteria:
inclusion criteria: * male or female children with hypochondroplasia defined by a disproportional short limb height and a x-ray evidence of shortening of the long bones and failure of increase in the interpedicular distance between lumbar vertebrae l1 and l5 * result of genetic analysis for mutation of gene fgfr3 already known or ongoing analysis at the beginning of the study * chronological age greater than or equal to 3 years * height for chronological age less than or equal to - 2 sds * bone age less than or equal to 11 years for girls and 13 years for boys * a written informed consent at the beginning of the pre-treatment period must be obtained from the parent(s)/legal guardian(s). children able to understand the trial should personally sign and date the written informed consent additional inclusion criteria for each study prolongation: * bone age at month 36 or month 60 is compatible with treatment prolongation according to investigator opinion * subject is still under r-hgh treatment with saizen® at month 36 or month 60 * height gain greater than or equal to + 1 sds after the 2 first years of treatment for treatment prolongation at month 36 and growth velocity greater than or equal to 5 centimeter (cm) per year, with bone age less than 14 years for females or less than 16 years for males for treatment prolongation at month 60 * according to investigator opinion, gene mutations of the subjects are not in connection with observed side effects during the 3 or 5 first years of treatment * an updated written informed consent must be obtained from the parent(s)/legal guardian(s) before the start of each study prolongation. children able to understand the trial should personally sign and date the written informed consent exclusion criteria: * turner's syndrome in girls * active malignant neoplastic disease * severe congenital malformations * proliferative or preproliferative diabetic retinopathy * evidence of any progression or recurrence of an underlying intra-cranial space occupying lesion * severe psychomotor retardation * diabetes mellitus or history of significant glucose intolerance as defined by a fasting blood glucose greater than 6.4 millimole per liter (mmol/l) * known renal insufficiency as defined by serum creatinine level 1.0 milligram per deciliter (mg/dl) (88 micromole per liter \[mcmol/l\]) * known hepatic disease as defined by elevated liver enzymes or total bilirubin (\* 2 normal) * current congestive heart failure, untreated hypertension, serious chronic edema of any cause * chronic infectious disease * history of intracranial hypertension with papilledema * previous or ongoing treatment with sex steroid therapy such as estrogens or testosterone * previous or ongoing treatment with any therapy that may directly influence growth, including growth hormone (gh), growth hormone releasing hormone (ghrh) and long duration corticosteroids therapy * known hypersensitivity to somatropin or any of the excipients * epiphyseal fusion * participation to any clinical study within the 30 days preceding study entry * pregnant females

Keywords: hypochondroplasia skeletal dysplasia growth growth hormone recombinant-human growth hormone